Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0268425
Disease: Alstrom Syndrome
Alstrom Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 5 30 1.000 definitive 0.968 44 30 2002 2017
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group Cardiovascular Diseases Disease or Syndrome 418 387 0.400 1 2013 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 strong 6 1997 2012
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
disease Cardiovascular Diseases Disease or Syndrome 387 121 0.300 1 2013 2013
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 146 2 0.300 strong 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 180 1 0.300 strong 0
CUI: C0028754
Disease: Obesity
Obesity
disease Nutritional and Metabolic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1960 811 0.270 1.000 7 2002 2015
Diabetes Mellitus, Non-Insulin-Dependent
disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 1671 1522 0.150 0.800 5 2005 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 409 311 0.120 1.000 2 2016 2016
CUI: C4085590
Disease: Cone-Rod Dystrophies
Cone-Rod Dystrophies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 52 12 0.120 1.000 2 2016 2016
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
disease Nutritional and Metabolic Diseases Disease or Syndrome 376 33 0.110 1.000 1 2015 2015
CUI: C1561549
Disease: Glomerular filtration rate finding
Glomerular filtration rate finding
phenotype Finding 64 144 0.100 2 3 2016 2017
Creatinine measurement, serum (procedure)
phenotype Laboratory Procedure 68 140 0.100 2 2 2016 2017
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 379 120 0.100 1 1 2012 2012
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery
phenotype Pathologic Function 374 3393 0.100 1 1 2011 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.100 1 1 2016 2016
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 306 814 0.100 1 1 2012 2012
CUI: C1314691
Disease: Age at menarche
Age at menarche
phenotype Finding 89 251 0.100 1 1 2017 2017
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 282 676 0.100 1 1 2012 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 335 923 0.100 1 1 2012 2012
High density lipoprotein measurement
phenotype Laboratory Procedure 323 867 0.100 1 1 2012 2012
CUI: C0876973
Disease: Infectious disease of lung
Infectious disease of lung
group Disease or Syndrome 111 1 0.100 0
CUI: C0730290
Disease: Cone dystrophy
Cone dystrophy
disease Disease or Syndrome 47 13 0.100 0
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 71 20 0.100 0
CUI: C0743359
Disease: Chronic ear infection
Chronic ear infection
disease Disease or Syndrome 62 0.100 0